Schizophrenia: a common disease caused by multiple rare alleles.

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature (2009) 33.26

Five years of GWAS discovery. Am J Hum Genet (2012) 12.97

Rare and common variants: twenty arguments. Nat Rev Genet (2012) 6.67

De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat Genet (2012) 5.78

Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry (2008) 4.14

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet (2009) 3.25

Phenotypic and genetic complexity of psychosis. Invited commentary on ... Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 2.97

What would you do if you could sequence everything? Nat Biotechnol (2008) 2.89

Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79

Genetic foundations of human intelligence. Hum Genet (2009) 2.71

Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum. PLoS One (2008) 2.22

Pathways-based analyses of whole-genome association study data in bipolar disorder reveal genes mediating ion channel activity and synaptic neurotransmission. Hum Genet (2008) 2.18

Design of association studies with pooled or un-pooled next-generation sequencing data. Genet Epidemiol (2010) 2.06

Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays. Ann Appl Stat (2008) 1.75

Genetics of psychosis; insights from views across the genome. Hum Genet (2009) 1.68

Heritability of subcortical and limbic brain volume and shape in multiplex-multigenerational families with schizophrenia. Biol Psychiatry (2014) 1.57

Interaction between FEZ1 and DISC1 in regulation of neuronal development and risk for schizophrenia. Neuron (2011) 1.57

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch Gen Psychiatry (2008) 1.51

Genome-wide association studies: progress and potential for drug discovery and development. Nat Rev Drug Discov (2008) 1.45

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet (2013) 1.44

Ten good reasons to consider biological processes in prevention and intervention research. Dev Psychopathol (2008) 1.41

Integration-free induced pluripotent stem cells derived from schizophrenia patients with a DISC1 mutation. Mol Psychiatry (2011) 1.39

Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia. Schizophr Res (2009) 1.32

Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia. Am J Hum Genet (2009) 1.27

A large-scale candidate gene association study of age at menarche and age at natural menopause. Hum Genet (2010) 1.22

Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. Am J Epidemiol (2010) 1.21

Advances in endophenotyping schizophrenia. World Psychiatry (2008) 1.18

Structural cerebral variations as useful endophenotypes in schizophrenia: do they help construct "extended endophenotypes"? Schizophr Bull (2008) 1.12

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat Genet (2013) 1.10

A population genetic approach to mapping neurological disorder genes using deep resequencing. PLoS Genet (2011) 1.07

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. Appl Clin Genet (2012) 1.07

Longitudinal brain changes in early-onset psychosis. Schizophr Bull (2008) 1.06

The genomically mosaic brain: aneuploidy and more in neural diversity and disease. Semin Cell Dev Biol (2013) 1.05

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population. PLoS One (2011) 1.05

Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia. Mol Psychiatry (2011) 1.02

Identification of rare alleles and their carriers using compressed se(que)nsing. Nucleic Acids Res (2010) 1.02

Paternal age and psychiatric disorders: findings from a Dutch population registry. Schizophr Res (2011) 1.01

What is complex about complex disorders? Genome Biol (2012) 1.00

Neuregulin 1-erbB4 pathway in schizophrenia: From genes to an interactome. Brain Res Bull (2010) 0.97

Disruption of dopamine neuron activity pattern regulation through selective expression of a human KCNN3 mutation. Neuron (2013) 0.95

In utero electroporation as a tool for genetic manipulation in vivo to study psychiatric disorders: from genes to circuits and behaviors. Neuroscientist (2011) 0.94

Following the genes: a framework for animal modeling of psychiatric disorders. BMC Biol (2011) 0.94

Neural plasticity, human genetics, and risk for alcohol dependence. Int Rev Neurobiol (2010) 0.94

Application of systems biology approach identifies and validates GRB2 as a risk gene for schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample. Schizophr Res (2010) 0.92

Modeling motivational deficits in mouse models of schizophrenia: behavior analysis as a guide for neuroscience. Behav Processes (2011) 0.89

Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing. Hum Genet (2011) 0.89

Increased paternal age and the influence on burden of genomic copy number variation in the general population. Hum Genet (2013) 0.88

Dopamine genes and schizophrenia: case closed or evidence pending? Schizophr Bull (2007) 0.88

Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. Schizophr Res (2008) 0.86

The hope of progress. BMC Biol (2010) 0.85

Comparative linkage meta-analysis reveals regionally-distinct, disparate genetic architectures: application to bipolar disorder and schizophrenia. PLoS One (2011) 0.84

Decanalization, brain development and risk of schizophrenia. Transl Psychiatry (2011) 0.83

Genetic and functional analysis of the DLG4 gene encoding the post-synaptic density protein 95 in schizophrenia. PLoS One (2010) 0.82

Nature and nurture in neuropsychiatric genetics: where do we stand? Dialogues Clin Neurosci (2010) 0.82

A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia. Hum Genet (2008) 0.81

A novel approach for the simultaneous analysis of common and rare variants in complex traits. Bioinform Biol Insights (2012) 0.81

Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia. PLoS One (2014) 0.80

Comparison of multimarker logistic regression models, with application to a genomewide scan of schizophrenia. BMC Genet (2010) 0.80

Discovering schizophrenia endophenotypes in randomly ascertained pedigrees. Biol Psychiatry (2014) 0.80

Evidence for involvement of GNB1L in autism. Am J Med Genet B Neuropsychiatr Genet (2011) 0.80

Searching for the true genetic vulnerability for schizophrenia. Genome Med (2009) 0.80

Efficient evaluation of ranking procedures when the number of units is large, with application to SNP identification. Biom J (2010) 0.80

The continuum of causality in human genetic disorders. Genome Biol (2016) 0.80

A Preliminary Genetic Analysis of Complement 3 Gene and Schizophrenia. PLoS One (2015) 0.80

Association of estrogen receptor alpha gene polymorphism with age at onset, general psychopathology symptoms, and therapeutic effect of schizophrenia. Behav Brain Funct (2013) 0.79

Heterogeneity and hypothesis testing in neuropsychiatric illness. Behav Brain Sci (2008) 0.79

The DAO gene is associated with schizophrenia and interacts with other genes in the Taiwan Han Chinese population. PLoS One (2013) 0.78

Common promoter variants of the NDUFV2 gene do not confer susceptibility to schizophrenia in Han Chinese. Behav Brain Funct (2010) 0.78

Strategies for Integrated Analysis of Genetic, Epigenetic, and Gene Expression Variation in Cancer: Addressing the Challenges. Front Genet (2016) 0.78

Adjuvant chemotherapy for breast cancer in patients with schizophrenia. Oncol Lett (2012) 0.78

Dopamine in socioecological and evolutionary perspectives: implications for psychiatric disorders. Front Neurosci (2015) 0.77

Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes. Schizophr Bull (2014) 0.76

Basic helix-loop-helix transcription factor NEUROG1 and schizophrenia: effects on illness susceptibility, MRI brain morphometry and cognitive abilities. Schizophr Res (2008) 0.76

Using Genetic Distance to Infer the Accuracy of Genomic Prediction. PLoS Genet (2016) 0.76

A novel approach for identifying causal models of complex diseases from family data. Genetics (2015) 0.76

A preliminary study of the relationship between breast cancer metastasis and loss of heterozygosity by using exome sequencing. Sci Rep (2014) 0.76

Schizophrenia and cortical blindness: protective effects and implications for language. Front Hum Neurosci (2014) 0.75

Schizophrenia: current concepts and approaches to patient care. Am Health Drug Benefits (2008) 0.75

Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales. Genome Biol Evol (2015) 0.75

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients. Meta Gene (2015) 0.75

Genetic hypotheses for schizophrenia. Br J Psychiatry (2007) 0.75

Disrupted-in-schizophrenia 1 Mutation Prone Positions: A Pathogenesis of Schizophrenia. Indian J Psychol Med (2013) 0.75

A Case for Returning to Multiplex Families for Further Understanding the Heritability of Schizophrenia: A Psychiatrist's Perspective. Mol Neuropsychiatry (2016) 0.75

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia. Genes (Basel) (2016) 0.75

Schizophrenia-Like Phenotype Inherited by the F2 Generation of a Gestational Disruption Model of Schizophrenia. Neuropsychopharmacology (2015) 0.75

Genetics of Schizophrenia: Overview of Methods, Findings and Limitations. Front Hum Neurosci (2017) 0.75

Strong association of de novo copy number mutations with autism. Science (2007) 27.84

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

Genetic heterogeneity in human disease. Cell (2010) 10.67

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62

Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51

Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70

Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children. JAMA (2013) 4.08

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99

Trends of probable post-traumatic stress disorder in New York City after the September 11 terrorist attacks. Am J Epidemiol (2003) 3.93

The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64

Advancing paternal age and autism. Arch Gen Psychiatry (2006) 3.58

Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54

Cohort effects explain the increase in autism diagnosis among children born from 1992 to 2003 in California. Int J Epidemiol (2011) 3.51

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51

Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25

The National Children's Study: a 21-year prospective study of 100,000 American children. Pediatrics (2006) 3.16

Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05

Employment outcome for people with schizophrenia in rural v. urban China: population-based study. Br J Psychiatry (2012) 2.80

Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76

Race and risk of schizophrenia in a US birth cohort: another example of health disparity? Int J Epidemiol (2007) 2.67

Global perspective on early diagnosis and intervention for children with developmental delays and disabilities. Dev Med Child Neurol (2012) 2.64

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62

DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58

Telomeres shorten at equivalent rates in somatic tissues of adults. Nat Commun (2013) 2.56

Genomic DNA methylation among women in a multiethnic New York City birth cohort. Cancer Epidemiol Biomarkers Prev (2008) 2.52

Psychopathology among New York city public school children 6 months after September 11. Arch Gen Psychiatry (2005) 2.48

Ethnic density of neighborhoods and incidence of psychotic disorders among immigrants. Am J Psychiatry (2007) 2.45

Analysis of self-selection bias in a population-based cohort study of autism spectrum disorders. Paediatr Perinat Epidemiol (2013) 2.42

Deviance in fetal growth and risk of autism spectrum disorder. Am J Psychiatry (2013) 2.36

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27

Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20

Folic acid supplements in pregnancy and severe language delay in children. JAMA (2011) 2.18

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17

Discrimination and the incidence of psychotic disorders among ethnic minorities in The Netherlands. Int J Epidemiol (2007) 2.12

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11

The aftermath of September 11: what's an epidemiologist to do? Int J Epidemiol (2002) 2.06

The association of high birth weight with intelligence in young adulthood: a cohort study of male siblings. Am J Epidemiol (2014) 2.00

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99

Reduction in incidence of hospitalizations for psychotic episodes through early identification and intervention. Psychiatr Serv (2014) 1.99

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99

BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89

Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72

Age at migration and future risk of psychotic disorders among immigrants in the Netherlands: a 7-year incidence study. Am J Psychiatry (2011) 1.67

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67

Prenatal famine and adult health. Annu Rev Public Health (2011) 1.67

Leukocyte telomere length and the father's age enigma: implications for population health and for life course. Int J Epidemiol (2013) 1.66

Psychosis and place. Epidemiol Rev (2008) 1.63

Commentary: Advent of sibling designs. Int J Epidemiol (2011) 1.60

In memoriam: Mervyn Susser, MB, BCh, DPH. Am J Epidemiol (2014) 1.59

Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48

A randomized trial of a brief HIV risk reduction intervention for men with severe mental illness. Psychiatr Serv (2006) 1.47

Paternal age and intelligence: implications for age-related genomic changes in male germ cells. Psychiatr Genet (2005) 1.42

Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation. Mol Cancer Res (2007) 1.40

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37

Maternal famine, de novo mutations, and schizophrenia. JAMA (2006) 1.35

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet (2010) 1.31

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet (2005) 1.20

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet (2002) 1.17

Tracking and fixed ranking of leukocyte telomere length across the adult life course. Aging Cell (2013) 1.17

Trauma exposure and posttraumatic stress disorder among employees of New York City companies affected by the September 11, 2001 attacks on the World Trade Center. Disaster Med Public Health Prep (2011) 1.16

Mental health needs in New York state following the September 11th attacks. J Urban Health (2002) 1.16

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet (2005) 1.15

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer (2012) 1.14

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A (2013) 1.12

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11

Prenatal malnutrition and adult schizophrenia: further evidence from the 1959-1961 Chinese famine. Schizophr Bull (2009) 1.11

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet (2013) 1.10

Comparative analysis of cancer genes in the human and chimpanzee genomes. BMC Genomics (2006) 1.10

Early growth patterns in children with autism. Epidemiology (2013) 1.10

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J Med Genet (2010) 1.07

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics (2006) 1.06

Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol (2012) 1.06

The role of birth cohorts in studies of adult health: the New York women's birth cohort. Paediatr Perinat Epidemiol (2009) 1.05

Genome-wide association studies: does only size matter? Am J Psychiatry (2010) 1.04

Adult global DNA methylation in relation to pre-natal nutrition. Int J Epidemiol (2011) 1.02

The eco- in eco-epidemiology. Int J Epidemiol (2006) 1.01

Identifying children with autism spectrum disorder at 18 months in a general population sample. Paediatr Perinat Epidemiol (2014) 1.01

Children of HIV-positive drug-using parents. J Am Acad Child Adolesc Psychiatry (2003) 1.00

Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99

The influence of maternal prenatal and early childhood nutrition and maternal prenatal stress on offspring immune system development and neurodevelopmental disorders. Front Neurosci (2013) 0.99

The concept of population prevention: application to schizophrenia. Schizophr Bull (2003) 0.98

Race: a genetic melting-pot. Nature (2003) 0.98

Prenatal nutrition, epigenetics and schizophrenia risk: can we test causal effects? Epigenomics (2012) 0.97

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome (2010) 0.96

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96

The psychological impact of the SARS epidemic on hospital employees in China: exposure, risk perception, and altruistic acceptance of risk. Can J Psychiatry (2009) 0.96

A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1. PLoS One (2012) 0.96